Canonical Allele Identifier: CA2502684553

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47074072-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074073_47074074del , CM000664.2:g.47074073_47074074del	GRCh38
NC_000002.11:g.47301212_47301213del , CM000664.1:g.47301212_47301213del	GRCh37
NC_000002.10:g.47154716_47154717del	NCBI36
NG_034143.1:g.162945_162946del
NG_034143.2:g.162945_162946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4560_4561del (TTC7A)
ENST00000698503.1:n.2733_2734del (TTC7A)
ENST00000319190.11:c.*150_*151del (TTC7A) MANE Select	ENSP00000316699.5:n.*150_*151del
ENST00000651101.1:n.1325_1326del (TTC7A)
ENST00000651415.1:n.1518_1519del (TTC7A)
ENST00000652236.1:n.1428_1429del (TTC7A)
ENST00000652568.1:n.1400_1401del (TTC7A)
ENST00000319190.9:c.*150_*151del (TTC7A)	ENSP00000316699.5:n.*150_*151del
ENST00000394850.6:c.*150_*151del (TTC7A)	ENSP00000378320.2:n.*150_*151del
ENST00000409825.5:c.2675_2676del (TTC7A)
ENST00000422269.1:c.787-7937_787-7936del
ENST00000464527.2:n.399-7937_399-7936del (STPG4)
ENST00000482548.1:n.402-5518_402-5517del (STPG4)
ENST00000484061.5:n.1834_1835del (TTC7A)
ENST00000491786.5:n.2131_2132del (TTC7A)
ENST00000496939.1:n.416-27155_416-27154del (STPG4)
NM_001288951.1:c.*150_*151del (TTC7A)	NP_001275880.1:n.*150_*151del
NM_001288953.1:c.*150_*151del (TTC7A)	NP_001275882.1:n.*150_*151del
NM_001288955.1:c.*150_*151del (TTC7A)	NP_001275884.1:n.*150_*151del
NM_020458.3:c.*150_*151del (TTC7A)	NP_065191.2:n.*150_*151del
XM_005264439.2:c.*150_*151del (TTC7A)	XP_005264496.1:n.*150_*151del
XM_011532998.1:c.*150_*151del (TTC7A)	XP_011531300.1:n.*150_*151del
XM_011533000.1:c.*150_*151del (TTC7A)	XP_011531302.1:n.*150_*151del
XM_011533001.1:c.*150_*151del (TTC7A)	XP_011531303.1:n.*150_*151del
XM_005264439.4:c.*150_*151del (TTC7A)	XP_005264496.1:n.*150_*151del
XM_011532998.3:c.*150_*151del (TTC7A)	XP_011531300.1:n.*150_*151del
XM_011533000.3:c.*150_*151del (TTC7A)	XP_011531302.1:n.*150_*151del
XM_011533001.3:c.*150_*151del (TTC7A)	XP_011531303.1:n.*150_*151del
XM_017004524.1:c.*150_*151del (TTC7A)	XP_016860013.1:n.*150_*151del
XM_017004525.1:c.*150_*151del (TTC7A)	XP_016860014.1:n.*150_*151del
XM_017004526.1:c.*150_*151del (TTC7A)	XP_016860015.1:n.*150_*151del
XM_024453013.1:c.*150_*151del (TTC7A)	XP_024308781.1:n.*150_*151del
NM_020458.4:c.*150_*151del (TTC7A) MANE Select	NP_065191.2:n.*150_*151del
NM_001288951.2:c.*150_*151del (TTC7A)	NP_001275880.1:n.*150_*151del
NM_001288953.2:c.*150_*151del (TTC7A)	NP_001275882.1:n.*150_*151del
NM_001288955.2:c.*150_*151del (TTC7A)	NP_001275884.1:n.*150_*151del